Canonical Allele Identifier: CA383545617

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1204889937
• gnomAD v2: 12-6438968-C-G
• gnomAD v4: 12-6329802-C-G
• MyVariant Identifiers: chr12:g.6438968C>G (hg19) ; chr12:g.6329802C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329802C>G , CM000674.2:g.6329802C>G	GRCh38
NC_000012.11:g.6438968C>G , CM000674.1:g.6438968C>G	GRCh37
NC_000012.10:g.6309229C>G	NCBI36
NG_007506.1:g.17294G>C , LRG_193:g.17294G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2134G>C
ENST00000437813.8:c.*494G>C	ENSP00000513672.1:n.*494G>C
ENST00000440083.7:c.1252G>C	ENSP00000413224.3:p.Ala418Pro
ENST00000535958.2:c.*860G>C	ENSP00000513673.1:n.*860G>C
ENST00000698337.1:n.994G>C
ENST00000698338.1:n.1647G>C
ENST00000698339.1:c.*528G>C	ENSP00000513670.1:n.*528G>C
ENST00000698340.1:c.*272G>C	ENSP00000513671.1:n.*272G>C
ENST00000162749.7:c.1033G>C MANE Select	ENSP00000162749.2:p.Ala345Pro
ENST00000162749.6:c.1033G>C	ENSP00000162749.2:p.Ala345Pro
ENST00000534885.5:c.*510G>C	ENSP00000441803.1:n.*510G>C
ENST00000536717.5:n.937G>C
ENST00000540022.5:c.904G>C	ENSP00000438343.1:p.Ala302Pro
ENST00000543359.5:n.445G>C
ENST00000543995.5:c.*620G>C	ENSP00000442405.1:n.*620G>C
NM_001065.3:c.1033G>C , LRG_193t1:c.1033G>C	NP_001056.1:p.Ala345Pro
NM_001346091.1:c.709G>C	NP_001333020.1:p.Ala237Pro
NM_001346092.1:c.574G>C	NP_001333021.1:p.Ala192Pro
NR_144351.1:n.1262G>C
NM_001065.4:c.1033G>C MANE Select	NP_001056.1:p.Ala345Pro
NM_001346091.2:c.709G>C	NP_001333020.1:p.Ala237Pro
NM_001346092.2:c.574G>C	NP_001333021.1:p.Ala192Pro
NR_144351.2:n.1221G>C